RESUMO
OBJECTIVE: To investigate whether screening for carriership of sickle-cell anaemia and thalassaemia is desirable in the Netherlands, given the prevalence of the diseases, the possibilities of a screening test and the knowledge of the population at risk. DESIGN: Descriptive. SETTING: Wilhelmina Children's Hospital, Clinical Genetic Centre, Utrecht, the Netherlands. METHODS: In September 1992 Dutch paediatricians were treating 128 children with sickle-cell anaemia and 31 with thalassaemia major. Between October 1992 and December 1994, sickle-cell anaemia was diagnosed in 40 children and thalassaemia major in 14; of these, 16 and 4, respectively, had been born in the Netherlands. A protocol for the screening for carriership adjusted to the Dutch situation was drawn up in the past, with an estimate of the corresponding costs. Patients with sickle-cell anaemia or thalassaemia major, their families, care givers and persons without disease but originating from Surinam, the Netherlands Antilles, Turkey or Morocco were interviewed about their knowledge of these two diseases. RESULTS: The knowledge of the diseases was low among the Turkish and Moroccan populations, and very global among the Surinamese and Antillian populations. There was more belief in supernatural causes than in a genetic predisposition. CONCLUSION: Given the low number of newly diagnosed haemoglobinopathies in children born in the Netherlands, the poor knowledge of the disease of the population at risk, the difficulty in identifying the best moment in life for screening and the rather complicated screening method, a screening programme for carriership of haemoglobinopathies in the Netherlands is not opportune. Where sickle-cell anaemia is concerned, screening for this disease during the neonatal period might be considered.
Assuntos
Testes Genéticos/tendências , Conhecimentos, Atitudes e Prática em Saúde , Hemoglobinopatias/etnologia , Programas de Rastreamento/tendências , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Humanos , Recém-Nascido , Marrocos/etnologia , Países Baixos/epidemiologia , Antilhas Holandesas/etnologia , Suriname/etnologia , Turquia/etnologiaRESUMO
Two brothers, aged 7 and 5 years, who excreted large amounts of the leucine metabolites 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid, are described. The excretion of these metabolites could be enhanced by increasing the leucine intake. Restriction of the protein intake resulted in a marked reduction of the metabolite excretion. However, the excretion of the ultimate leucine metabolite, 3-hydroxy-3-methylglutaric acid, remained unchanged at a low level. The only clinical abnormality was speech retardation. A (partial) deficiency of 3-methylglutaconyl coenzyme A hydratase is proposed to be the most likely underlying defect.